Canonical Allele Identifier: CA302375

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 191809
• ClinVar RCV Id: RCV000172148 ; RCV001132849 ; RCV001132848 ; RCV001132850 ; RCV001347072 ; RCV001132847 ; RCV001136253
• dbSNP Id: rs369703073
• ExAC: 2:179394999 C / T
• gnomAD v2: 2-179394999-C-T
• gnomAD v3: 2-178530272-C-T
• gnomAD v4: 2-178530272-C-T
• MyVariant Identifiers: chr2:g.179394999C>T (hg19) ; chr2:g.178530272C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530272C>T , CM000664.2:g.178530272C>T	GRCh38
NC_000002.11:g.179394999C>T , CM000664.1:g.179394999C>T	GRCh37
NC_000002.10:g.179103245C>T	NCBI36
NG_011618.3:g.305531G>A , LRG_391:g.305531G>A
NG_051363.1:g.12446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98639G>A (TTN)	ENSP00000343764.6:p.Arg32880Gln
ENST00000342175.11:c.79724G>A (TTN)	ENSP00000340554.6:p.Arg26575Gln
ENST00000359218.10:c.79523G>A (TTN)	ENSP00000352154.5:p.Arg26508Gln
ENST00000342175.10:c.79724G>A (TTN)	ENSP00000340554.6:p.Arg26575Gln
ENST00000342992.10:c.98639G>A (TTN)	ENSP00000343764.6:p.Arg32880Gln
ENST00000359218.9:c.79523G>A (TTN)	ENSP00000352154.5:p.Arg26508Gln
ENST00000460472.6:c.79148G>A (TTN)	ENSP00000434586.1:p.Arg26383Gln
ENST00000589042.5:c.106343G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg35448Gln
ENST00000591111.5:c.101420G>A (TTN)	ENSP00000465570.1:p.Arg33807Gln
ENST00000615779.4:c.101420G>A (TTN)	ENSP00000483597.1:p.Arg33807Gln
NM_001256850.1:c.101420G>A (TTN)	NP_001243779.1:p.Arg33807Gln
NM_001267550.2:c.106343G>A (TTN) MANE Select	NP_001254479.2:p.Arg35448Gln
NM_003319.4:c.79148G>A (TTN)	NP_003310.4:p.Arg26383Gln
NM_133378.4:c.98639G>A (TTN)	NP_596869.4:p.Arg32880Gln
NM_133432.3:c.79523G>A (TTN)	NP_597676.3:p.Arg26508Gln
NM_133437.4:c.79724G>A (TTN)	NP_597681.4:p.Arg26575Gln
NR_038271.1:n.446+6636C>T (TTN-AS1)
NR_038272.1:n.220-5460C>T (TTN-AS1)
XM_011511729.1:c.105440G>A (TTN)	XP_011510031.1:p.Arg35147Gln
XM_011511730.1:c.79334G>A (TTN)	XP_011510032.1:p.Arg26445Gln
XM_011511731.1:c.79193G>A (TTN)	XP_011510033.1:p.Arg26398Gln
XM_017004819.1:c.105236G>A (TTN)	XP_016860308.1:p.Arg35079Gln
XM_017004820.1:c.100634G>A (TTN)	XP_016860309.1:p.Arg33545Gln
XM_017004821.1:c.100631G>A (TTN)	XP_016860310.1:p.Arg33544Gln
XM_017004822.1:c.97673G>A (TTN)	XP_016860311.1:p.Arg32558Gln
XM_017004823.1:c.79289G>A (TTN)	XP_016860312.1:p.Arg26430Gln
XM_024453094.1:c.100784G>A (TTN)	XP_024308862.1:p.Arg33595Gln
XM_024453095.1:c.100781G>A (TTN)	XP_024308863.1:p.Arg33594Gln
XM_024453096.1:c.100214G>A (TTN)	XP_024308864.1:p.Arg33405Gln
XM_024453097.1:c.97556G>A (TTN)	XP_024308865.1:p.Arg32519Gln
XM_024453098.1:c.97475G>A (TTN)	XP_024308866.1:p.Arg32492Gln
XM_024453099.1:c.79238G>A (TTN)	XP_024308867.1:p.Arg26413Gln
XM_024453100.1:c.69092G>A (TTN)	XP_024308868.1:p.Arg23031Gln